DDX3X[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1202310	NM_001356.5(DDX3X):c.-72G>A	DDX3X	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2706048	NM_001356.5(DDX3X):c.1A>G (p.Met1Val)	DDX3X (M1V)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 3067176	NM_001356.5(DDX3X):c.3G>T (p.Met1Ile)	DDX3X (M1I)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1921343	NM_001356.5(DDX3X):c.3G>A (p.Met1Ile)	DDX3X (M1I)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic
Select item 521712	NM_001356.5(DDX3X):c.3G>C (p.Met1Ile)	DDX3X (M1I)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GPathogenic
Select item 2584424	NM_001356.5(DDX3X):c.7dup (p.His3fs)	DDX3X (H3fs)	Duplication (frameshift variant +2 more)	DDX3X-Related Neurodevelopmental Disorder	GLikely pathogenic
Select item 2018140	NM_001356.5(DDX3X):c.18G>A (p.Val6=)	DDX3X	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1313031	NM_001356.5(DDX3X):c.23A>G (p.Asn8Ser)	DDX3X (N8S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1582323	NM_001356.5(DDX3X):c.27G>A (p.Ala9=)	DDX3X	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1800603	NM_001356.5(DDX3X):c.31G>A (p.Gly11Arg)	DDX3X (G11R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1377586	NM_001356.5(DDX3X):c.38A>G (p.Asp13Gly)	DDX3X (D13G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 504264	NM_001356.5(DDX3X):c.40C>T (p.Gln14Ter)	DDX3X (Q14*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability +1 more	GPathogenic
Select item 1693000	NM_001356.5(DDX3X):c.42G>C (p.Gln14His)	DDX3X (Q14H)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, X-linked 102	GBenign
Select item 1879759	NM_001356.5(DDX3X):c.45+2T>A	DDX3X	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2995047	NM_001356.5(DDX3X):c.45+9C>G	DDX3X	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2698782	NM_001356.5(DDX3X):c.45+19A>C	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627462	NM_001356.5(DDX3X):c.45+19A>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272632	NM_001356.5(DDX3X):c.45+195C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262432	NM_001356.5(DDX3X):c.45+196C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191106	NM_001356.5(DDX3X):c.45+316T>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660336	NM_001356.5(DDX3X):c.45+331dup	DDX3X	Duplication (intron variant)	not provided	GLikely benign
Select item 2660337	NM_001356.5(DDX3X):c.45+370G>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660338	NM_001356.5(DDX3X):c.45+503G>A	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231810	NM_001356.5(DDX3X):c.46-244C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2819489	NM_001356.5(DDX3X):c.46-19C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659680	NM_001356.5(DDX3X):c.46-17A>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654574	NM_001356.5(DDX3X):c.46-12A>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2150412	NM_001356.5(DDX3X):c.46-9C>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010426	NM_001356.5(DDX3X):c.46-7C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661513	NM_001356.5(DDX3X):c.46-7C>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096294	NM_001356.5(DDX3X):c.50C>G (p.Ala17Gly)	DDX3X (A17G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 634575	NM_001356.5(DDX3X):c.58G>T (p.Asp20Tyr)	DDX3X (D20Y)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 916064	NM_001356.5(DDX3X):c.67_71dup (p.Asp25fs)	DDX3X (D25fs)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2440726	NM_001356.5(DDX3X):c.67_72dup (p.Ser24_Asp25insSerSer)	DDX3X	Duplication (inframe_insertion +2 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 2660339	NM_001356.5(DDX3X):c.69T>C (p.Ser23=)	DDX3X	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1302008	NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter)	DDX3X (S24*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1909036	NM_001356.5(DDX3X):c.72A>G (p.Ser24=)	DDX3X	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 986976	NM_001356.5(DDX3X):c.77del (p.Asn26fs)	DDX3X (N26fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1331655	NM_001356.5(DDX3X):c.79_80insT (p.Gln27fs)	DDX3X (Q27fs)	Insertion (frameshift variant +2 more)	not provided	GPathogenic
Select item 810575	NM_001356.5(DDX3X):c.79C>T (p.Gln27Ter)	DDX3X (Q27*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 280593	NM_001356.5(DDX3X):c.80dup (p.Ser28fs)	DDX3X (S28fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 1305113	NM_001356.5(DDX3X):c.80A>C (p.Gln27Pro)	DDX3X (Q27P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 817882	NM_001356.5(DDX3X):c.82_83del (p.Ser28fs)	DDX3X (S28fs)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 1525243	NM_001356.5(DDX3X):c.89G>T (p.Gly30Val)	DDX3X (G30V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 803980	NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs)	DDX3X (S35fs +1 more)	Microsatellite (frameshift variant +2 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 872822	NM_001356.5(DDX3X):c.95del (p.Thr32fs)	DDX3X (T32fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1566431	NM_001356.5(DDX3X):c.99C>T (p.Ala33=)	DDX3X	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 981366	NM_001356.5(DDX3X):c.103+2T>C	DDX3X	Single nucleotide variant (splice donor variant)	Intellectual disability	GPathogenic
Select item 1342895	NM_001356.5(DDX3X):c.103+6T>G	DDX3X	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 2843098	NM_001356.5(DDX3X):c.103+11C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2025730	NM_001356.5(DDX3X):c.103+18T>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207283	NM_001356.5(DDX3X):c.103+193dup	DDX3X	Duplication (intron variant)	not provided	GLikely benign
Select item 1261287	NM_001356.5(DDX3X):c.103+193del	DDX3X	Deletion (intron variant)	not provided	GBenign
Select item 1231006	NM_001356.5(DDX3X):c.103+192_103+193del	DDX3X	Deletion (intron variant)	not provided	GBenign
Select item 1283980	NM_001356.5(DDX3X):c.104-40dup	DDX3X	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3033261	NM_001356.5(DDX3X):c.104-23TA[8]	DDX3X	Microsatellite (5 prime UTR variant +1 more)	DDX3X-related disorder	GLikely benign
Select item 3059581	NM_001356.5(DDX3X):c.104-23TA[6]	DDX3X	Microsatellite (5 prime UTR variant +1 more)	DDX3X-related disorder	GBenign
Select item 1187506	NM_001356.5(DDX3X):c.104-4_104-3dup	DDX3X	Duplication (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 778981	NM_001356.5(DDX3X):c.104-3dup	DDX3X	Duplication (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 711136	NM_001356.5(DDX3X):c.104-10A>T	DDX3X	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, X-linked 102 +1 more	GBenign/Likely benign
Select item 523172	NM_001356.5(DDX3X):c.110_111dup (p.Tyr38fs)	DDX3X (Y38fs)	Microsatellite (frameshift variant +3 more)	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 545446	NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys)	DDX3X (Y38C)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1215809	NM_001356.5(DDX3X):c.119CTC[1] (p.Pro41del)	DDX3X (P41del)	Microsatellite (inframe_deletion +3 more)	not provided	GPathogenic
Select item 810576	NM_001356.5(DDX3X):c.118C>T (p.Pro40Ser)	DDX3X (P40S)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 1802175	NM_001356.5(DDX3X):c.119C>T (p.Pro40Leu)	DDX3X (P40L)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 419413	NM_001356.5(DDX3X):c.119C>G (p.Pro40Arg)	DDX3X (P40R)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic
Select item 419328	NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser)	DDX3X (P41S)	Single nucleotide variant (missense variant +3 more)	DDX3X-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 975950	NM_001356.5(DDX3X):c.122C>A (p.Pro41His)	DDX3X (P41H)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 1765225	NM_001356.5(DDX3X):c.126T>C (p.His42=)	DDX3X	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2577548	NM_001356.5(DDX3X):c.133A>T (p.Asn45Tyr)	DDX3X (N45Y)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 620156	NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter)	DDX3X (R46*)	Single nucleotide variant (nonsense +3 more)	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 689706	NM_001356.5(DDX3X):c.147del (p.Gly51fs)	DDX3X (G51fs)	Deletion (frameshift variant +3 more)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 423362	NM_001356.5(DDX3X):c.148A>T (p.Lys50Ter)	DDX3X (K50*)	Single nucleotide variant (nonsense +3 more)	not provided	GPathogenic
Select item 1676940	NM_001356.5(DDX3X):c.151+1G>A	DDX3X	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 1210946	NM_001356.5(DDX3X):c.151+103T>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239775	NM_001356.5(DDX3X):c.151+120T>C	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2673225	NM_001356.5(DDX3X):c.152-681A>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660340	NM_001356.5(DDX3X):c.152-668T>C	DDX3X	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2660341	NM_001356.5(DDX3X):c.152-663_152-662del	DDX3X	Deletion (intron variant)	not provided	GLikely benign
Select item 1289225	NM_001356.5(DDX3X):c.152-311C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217814	NM_001356.5(DDX3X):c.152-54A>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609384	NM_001356.5(DDX3X):c.152-19T>C	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1491752	NM_001356.5(DDX3X):c.152-18del	DDX3X	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 1599903	NM_001356.5(DDX3X):c.152-5C>G	DDX3X	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GBenign
Select item 1319946	NM_001356.5(DDX3X):c.152-1G>A	DDX3X	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 430070	NM_001356.5(DDX3X):c.152-1G>C	DDX3X	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1804210	NM_001356.5(DDX3X):c.152G>A (p.Gly51Asp)	DDX3X (G51D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1223218	NM_001356.5(DDX3X):c.159C>T (p.Tyr53=)	DDX3X	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1643257	NM_001356.5(DDX3X):c.162T>C (p.Asp54=)	DDX3X	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1184002	NM_001356.5(DDX3X):c.165dup (p.Asp56fs)	DDX3X (D40fs +1 more)	Duplication (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2712267	NM_001356.5(DDX3X):c.165del (p.Asp56fs)	DDX3X (D56fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 817485	NM_001356.5(DDX3X):c.168_169del (p.Asp56fs)	DDX3X (D40fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1583342	NM_001356.5(DDX3X):c.170G>A (p.Ser57Asn)	DDX3X (S41N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2010629	NM_001356.5(DDX3X):c.171T>G (p.Ser57Arg)	DDX3X (S57R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 432414	NM_001356.5(DDX3X):c.172T>G (p.Ser58Ala)	DDX3X (S58A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 803981	NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)	DDX3X (S58* +1 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, X-linked 102	GPathogenic/Likely pathogenic
Select item 1714643	NM_001356.5(DDX3X):c.179G>T (p.Trp60Leu)	DDX3X (W44L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1289008	NM_001356.5(DDX3X):c.181A>G (p.Ser61Gly)	DDX3X (S45G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 375368	NM_001356.5(DDX3X):c.192dup (p.Asp65fs)	DDX3X (D49fs +1 more)	Duplication (frameshift variant +2 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1223148	NM_001356.5(DDX3X):c.194A>G (p.Asp65Gly)	DDX3X (D49G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance

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